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Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.
Hellemans J, Preobrazhenska O, Willaert A, Debeer P, Verdonk PC, Costa T, Janssens K, Menten B, Van Roy N, Vermeulen SJ, Savarirayan R, Van Hul W, Vanhoenacker F, Huylebroeck D, De Paepe A, Naeyaert JM, Vandesompele J, Speleman F, Verschueren K, Coucke PJ, Mortier GR. Hellemans J, et al. Among authors: vanhoenacker f. Nat Genet. 2004 Nov;36(11):1213-8. doi: 10.1038/ng1453. Epub 2004 Oct 17. Nat Genet. 2004. PMID: 15489854
The majority of the genetic risk for Paget's disease of bone is explained by genetic variants close to the CSF1, OPTN, TM7SF4, and TNFRSF11A genes.
Chung PY, Beyens G, Boonen S, Papapoulos S, Geusens P, Karperien M, Vanhoenacker F, Verbruggen L, Fransen E, Van Offel J, Goemaere S, Zmierczak HG, Westhovens R, Devogelaer JP, Van Hul W. Chung PY, et al. Among authors: vanhoenacker f. Hum Genet. 2010 Dec;128(6):615-26. doi: 10.1007/s00439-010-0888-2. Epub 2010 Sep 14. Hum Genet. 2010. PMID: 20839008
Indications for a genetic association of a VCP polymorphism with the pathogenesis of sporadic Paget's disease of bone, but not for TNFSF11 (RANKL) and IL-6 polymorphisms.
Chung PY, Beyens G, de Freitas F, Boonen S, Geusens P, Vanhoenacker F, Verbruggen L, Van Offel J, Goemaere S, Zmierczak HG, Westhovens R, Devogelaer JP, Van Hul W. Chung PY, et al. Among authors: vanhoenacker f. Mol Genet Metab. 2011 Jul;103(3):287-92. doi: 10.1016/j.ymgme.2011.03.021. Epub 2011 Mar 31. Mol Genet Metab. 2011. PMID: 21501964
Heart-shaped sesamoid in multiple epiphyseal dysplasia.
Vanhoenacker F, Fabry K. Vanhoenacker F, et al. Pediatr Radiol. 2007 Nov;37(11):1178. doi: 10.1007/s00247-007-0550-x. Epub 2007 Jul 25. Pediatr Radiol. 2007. PMID: 17653537 No abstract available.
Identification of sex-specific associations between polymorphisms of the osteoprotegerin gene, TNFRSF11B, and Paget's disease of bone.
Beyens G, Daroszewska A, de Freitas F, Fransen E, Vanhoenacker F, Verbruggen L, Zmierczak HG, Westhovens R, Van Offel J, Ralston SH, Devogelaer JP, Van Hul W. Beyens G, et al. Among authors: vanhoenacker f. J Bone Miner Res. 2007 Jul;22(7):1062-71. doi: 10.1359/jbmr.070333. J Bone Miner Res. 2007. PMID: 17388729 Free article.
428 results